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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Human Viral Hepatitis
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Accession:DOID:9007329 term browser browse the term
Definition:INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission (HEPATITIS A; HEPATITIS E) or blood transfusion (HEPATITIS B; HEPATITIS C; and HEPATITIS D).
Synonyms:primary_id: MESH:D006525
 alt_id: RDO:0005321
For additional species annotation, visit the Alliance of Genome Resources.



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Human Viral Hepatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:16115302 RGD:5686674 NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
JBrowse link
G CD163 CD163 molecule ISO associated with human immunodeficiency virus infectious disease, opioid abuse;protein:increased expression:blood plasma (human) RGD PMID:31687981 RGD:149735532 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO RGD PMID:1670041 RGD:5688335 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO RGD PMID:20939108 RGD:14700885 Ensembl chr10:134,839,025...134,852,719 JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO RGD PMID:21805422 RGD:5147782 NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
JBrowse link
G IL10 interleukin 10 ISO DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human) RGD PMID:30109600 RGD:14975142 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL2RB interleukin 2 receptor subunit beta ISO protein:decreased expression:peripheral blood lymphocyte RGD PMID:1325198 RGD:42724465 NCBI chr22:18,039,469...18,069,952
Ensembl chr22:35,874,898...35,899,038
JBrowse link
G SMAD4 SMAD family member 4 ISO associated with hepatocellular carcinoma; protein:altered expression:liver RGD PMID:22799322 RGD:21066341 NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:missense mutation:cds:p.R194W, p.R280H (human) RGD PMID:19194663 RGD:15014792 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
JBrowse link
Chronic Hepatitis B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific treatment ISO DNA:SNP:enhancer: (rs4845384) (human) RGD PMID:24351124 RGD:125097515 NCBI chr 1:129,937,993...129,983,747 JBrowse link
G APOA1 apolipoprotein A1 ISO protein:decreased expression:plasma (human)
mRNA, protein:decreased expression:liver, serum (human)
RGD PMID:21726101 PMID:25115832 PMID:27015844 RGD:25671432 RGD:25671433 RGD:5508214 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:missense mutations:cds:p.C112R, p.R158C (human) RGD PMID:20961200 RGD:14401585 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G C2 complement C2 susceptibility ISO DNA:SNP:exon: p.Glu318Asp (human) RGD PMID:22610944 RGD:40886317 NCBI chr 6:31,590,135...31,606,368 JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:decreased expression:serum: RGD PMID:26281331 RGD:14995947 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL4L2 C-C motif chemokine ligand 4 like 2 ISO protein:increased expression:blood serum (human) RGD PMID:25808668 RGD:41404635 NCBI chr17:20,689,341...20,691,921 JBrowse link
G CCL5 C-C motif chemokine ligand 5 severity ISO RGD PMID:17711627 RGD:14995339 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17657819 NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077
JBrowse link
G CD163 CD163 molecule ISO protein:increased expression:blood serum (human) RGD PMID:26339412 RGD:11251207 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
JBrowse link
G CD1D CD1d molecule ISO associated with hepatocellular carcinoma;mRNA:increased expression:liver (human) RGD PMID:29643189 RGD:127345114 NCBI chr 1:133,549,258...133,557,752
Ensembl chr 1:137,341,690...137,348,173
JBrowse link
G CD274 CD274 molecule treatment ISO protein:increased expression:regulatory T cell RGD PMID:20460044 PMID:26266813 RGD:11344683 RGD:41412166 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
JBrowse link
G CEMIP2 cell migration inducing hyaluronidase 2 susceptibility ISO DNA:SNP:exon: p.Ser1254Asn (human) RGD PMID:22610944 RGD:40886317 NCBI chr 9:53,044,517...53,129,875
Ensembl chr 9:70,428,899...70,493,952
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNP: :-318C>T(human) RGD PMID:16489681 RGD:14398727 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 treatment ISO mRNA,protein:increased expression: peripheral blood mononuclear cell,serum, sinusoidal endothelium RGD PMID:18234638 PMID:30660173 RGD:27095888 RGD:27095951 NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity ISO mRNA, protein:increased expression:serum, peripheral blood mononuclear cell (human)
associated with liver disease;mRNA, protein:increased expression:liver, blood serum (human)
RGD PMID:23890815 PMID:26265888 RGD:11075958 RGD:150520196 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO RGD PMID:26234401 RGD:32716425 NCBI chr2A:87,688,732...87,759,580
Ensembl chr2A:89,596,833...89,667,468
JBrowse link
G FOXP3 forkhead box P3 ISO mRNA,protein:increased expression:peripheral blood mononuclear cell, liver: RGD PMID:18673437 PMID:21489307 RGD:38548921 RGD:38549358 NCBI chr  X:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO protein:increased expression:serum (human) RGD PMID:28465467 RGD:39939037 NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352
JBrowse link
G IFNG interferon gamma ISO protein:decreased expression:serum (human) RGD PMID:26684441 PMID:28465467 RGD:14974255 RGD:39939037 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IL12A interleukin 12A ISO mRNA:increased expression:liver RGD PMID:26062743 RGD:11097839 NCBI chr 3:157,011,675...157,019,897
Ensembl chr 3:165,061,505...165,068,666
JBrowse link
G IL12B interleukin 12B susceptibility ISO DNA:SNP:3'utr: (rs3212227) RGD PMID:25469587 RGD:11074616 NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381
JBrowse link
G IL18 interleukin 18 disease_progression ISO DNA:SNP:promoter:-607C>A(human) RGD PMID:27470888 RGD:14696663 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL2 interleukin 2 susceptibility ISO DNA:polymorphism:promoter:-385T>G(human) RGD PMID:19105930 RGD:14747034 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G IL21 interleukin 21 exacerbates
treatment
susceptibility
ISO protein:decreased expression:blood serum (human)
DNA:SNPs:introns: (rs2221903, rs907715) (human)
protein:increased expression:blood serum (human)
associated with non-alcoholic fatty liver disease
DNA:SNP:intron: (rs2221903) (human)
RGD PMID:23354321 PMID:25243706 PMID:26840345 PMID:28500636 PMID:29879024 More... RGD:127285353 RGD:127285361 RGD:127285364 RGD:127285369 RGD:127285378 RGD:127285539 RGD:127285549 RGD:127285551 NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
JBrowse link
G IL32 interleukin 32 exacerbates ISO mRNA, protein:increased expression:liver (human) RGD PMID:22687868 RGD:150340733 NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
JBrowse link
G IL33 interleukin 33 severity
treatment
ISO RGD PMID:25714983 PMID:27180842 RGD:39457933 RGD:39938954 NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
JBrowse link
G IL4 interleukin 4 treatment
disease_progression
ISO DNA:SNP:promoter:-590C>T (human) RGD PMID:21331994 PMID:26281177 RGD:14696675 RGD:14696697 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 ISO protein:increased expression:serum RGD PMID:24836184 RGD:40903002 NCBI chr 3:52,754,664...52,774,867
Ensembl chr 3:53,980,668...53,998,038
JBrowse link
G JAK1 Janus kinase 1 disease_progression ISO DNA:SNPs: :rs4244165, rs17127024 (human) RGD PMID:22901011 RGD:19165132 NCBI chr 1:64,083,562...64,315,909
Ensembl chr 1:65,973,904...66,024,991
JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO mRNA:decreased expression:liver (human) RGD PMID:22459801 RGD:6892954 NCBI chr19:10,037,544...10,055,091
Ensembl chr19:10,701,303...10,717,604
JBrowse link
G KLRK1 killer cell lectin like receptor K1 susceptibility ISO DNA:SNP:intron 1:(rs2617160) (human) RGD PMID:20648603 RGD:39018553 NCBI chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078
JBrowse link
G KRT18 keratin 18 disease_progression
severity
ISO protein:increased phosphorylation:liver (human)
protein:increased degradation:serum (human)
RGD PMID:20334631 PMID:28579343 RGD:18337487 RGD:18337494 NCBI chr12:35,807,660...35,811,691
Ensembl chr12:36,587,149...36,591,196
JBrowse link
G LEPR leptin receptor ISO mRNA:altered expression:liver, peripheral blood mononuclear cell RGD PMID:17060687 RGD:21079470 NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
JBrowse link
G LOC100972354 interferon alpha-2 susceptibility ISO CTD Direct Evidence: therapeutic
DNA:SNP:exon: p.Ala120Thr (human)
CTD
RGD
PMID:12802750 PMID:15340535 PMID:15751770 PMID:16246192 PMID:16476009 More... RGD:40886317 NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain no_association
treatment
ISO DNA:SNP: :rs2856718 (human)
DNA:polymorphism: :HLA-DQB1*07(human)
DNA:polymorphisms (human)
DNA:polymorphisms: :multiple
RGD PMID:16237774 PMID:16893387 PMID:28267888 PMID:29287219 RGD:14865012 RGD:14974232 RGD:36049762 RGD:5147637 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G LOC100976419 interferon lambda-1 ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21957142 RGD:126848748 NCBI chr19:36,394,462...36,397,363
Ensembl chr19:44,942,186...44,944,519
JBrowse link
G LOC100990924 NKG2-A/NKG2-B type II integral membrane protein severity ISO protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:28328926 RGD:40400737 NCBI chr12:10,469,351...10,576,060
Ensembl chr12:10,720,723...10,744,046
JBrowse link
G LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility
treatment
severity
ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:exon, 3' utr: (rs9277542) (human)
DNA:polymorphism: :(human)
DNA:SNP:exon 6: (rs9277542) (human)
DNA:polymorphisms, haplotypes:multiple (human)
DNA:polymorphisms:multiple (human)
DNA:polymorphism:exon, 3' utr: (rs9277535) (human)
DNA:SNPs:multiple (human)
DNA:SNP: :rs33054861(human)
CTD
RGD
PMID:19349983 PMID:21274863 PMID:21310144 PMID:22737229 PMID:24520320 More... RGD:11536957 RGD:14694816 RGD:14974232 RGD:150429660 RGD:150429794 RGD:150429799 RGD:150429802 RGD:150429807 RGD:150429808 NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387
JBrowse link
G LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain susceptibility
treatment
disease_progression
ISO DNA:SNP: :rs3077(human)
DNA:polymorphism::HLA-DPA1*04:01(human)
mRNA:decreased expression:peripheral blood mononuclear cell:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19349983 PMID:28275747 PMID:29300980 PMID:30267609 RGD:14694817 RGD:14694818 RGD:14694973 NCBI chr 6:32,637,826...32,646,501
Ensembl chr 6:33,752,638...33,761,417
JBrowse link
G MBL2 mannose binding lectin 2 severity ISO DNA:haplotype: : RGD PMID:27824315 RGD:14696831 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ISO protein:decreased expression:blood serum (human) RGD PMID:28871230 RGD:150340590 NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 disease_progression
severity
ISO protein:decreased expression:Peripheral blood mononuclear cell, natural killer cell (human)
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human)
RGD PMID:26291078 PMID:28328926 PMID:29625837 RGD:39128177 RGD:40400737 RGD:40818237 NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274
JBrowse link
G NFKBIA NFKB inhibitor alpha disease_progression ISO DNA:enhancers: :(rs2233406, rs2233409) (human) RGD PMID:29093318 RGD:127285389 NCBI chr14:16,155,331...16,158,588 JBrowse link
G PDCD1 programmed cell death 1 no_association
disease_progression
ISO mRNA:increased expression:liver parenchyma (human)
DNA:SNPs::+7146 G>A,+7209 C>T(human)
DNA:SNP:3' UTR:rs10204525(human)
DNA:SNP:exon:
protein:altered expression:serum:
RGD PMID:20700634 PMID:22634051 PMID:25736598 PMID:28983583 PMID:30016557 RGD:36947881 RGD:40818231 RGD:40818233 RGD:40818262 RGD:40818415 NCBI chr2B:129,111,509...129,121,127 JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO mRNA,protein:increased expression:liver RGD PMID:26234401 RGD:32716425 NCBI chr19:45,872,596...45,876,376
Ensembl chr19:54,880,141...54,883,003
JBrowse link
G PRDM1 PR/SET domain 1 disease_progression ISO RGD PMID:31100710 RGD:150530465 NCBI chr 6:103,899,410...103,923,389
Ensembl chr 6:107,773,229...107,796,815
JBrowse link
G STAT2 signal transducer and activator of transcription 2 ISO mRNA:decreased expression:monocyte (human) RGD PMID:30842274 RGD:41789632 NCBI chr12:32,555,523...32,574,137
Ensembl chr12:32,808,586...32,827,732
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNPs, haplotypes:multiple RGD PMID:25829184 RGD:25671420 NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 susceptibility ISO DNA:hypermethylation:promoter RGD PMID:30593207 RGD:39128221 NCBI chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO mRNA:decreased expression:blood RGD PMID:21843574 RGD:6482248 NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978
JBrowse link
G TERT telomerase reverse transcriptase susceptibility ISO DNA:SNP, haplotype: :rs10069690,rs2242652(human) RGD PMID:29507683 RGD:14696786 NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
JBrowse link
G TGFB1 transforming growth factor beta 1 no_association ISO DNA:SNPs:promoter:-509C>T (rs1800469) (human)
DNA:SNPs, haplotypes: :869C>T (rs1800470), 11929C>T (rs1800472) (human)
RGD PMID:28700046 RGD:14995436 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TLR2 toll like receptor 2 disease_progression
treatment
ISO protein:increased expression:serum: RGD PMID:25337250 PMID:25771704 PMID:28414577 RGD:15090812 RGD:15090826 RGD:15090828 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TLR3 toll like receptor 3 susceptibility ISO DNA:snp: :rs3775290(human)
DNA:SNP, haplotype: :1234C>T (human)
RGD PMID:23076446 PMID:26024592 RGD:21079416 RGD:21079425 NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
JBrowse link
G TLR4 toll like receptor 4 ISO protein:increased expression:serum: RGD PMID:28414577 RGD:15090812 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TNFSF13B TNF superfamily member 13b treatment ISO RGD PMID:30660173 RGD:27095888 NCBI chr13:89,399,044...89,438,837
Ensembl chr13:108,536,617...108,574,296
JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162738 NCBI chr22:3,690,100...3,746,665
Ensembl chr22:20,174,546...20,229,928
JBrowse link
Chronic Hepatitis C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 severity ISO DNA:SNP:introns:(rs3890182, rs1883025) (human) RGD PMID:28164591 RGD:21066337 NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188
JBrowse link
G ABCB1 ATP binding cassette subfamily B member 1 treatment
susceptibility
ISO DNA:SNP: :3435C>T(human)
DNA:SNP::2677G>T/A(rs2032582)(human)
RGD PMID:26922556 PMID:29155127 RGD:11574565 RGD:14700907 NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
JBrowse link
G ABCB11 ATP binding cassette subfamily B member 11 susceptibility
disease_progression
treatment
ISO DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human)
DNA:SNP:cds:c.1331T>C (rs2287622)(human)
RGD PMID:22681771 PMID:29091211 PMID:29755014 RGD:14402415 RGD:14402416 RGD:14402417 NCBI chr2B:56,199,434...56,311,773
Ensembl chr2B:173,664,518...173,776,379
JBrowse link
G ACE angiotensin I converting enzyme treatment ISO protein:decreased expression:serum (human) RGD PMID:17106926 PMID:27147779 PMID:29641775 RGD:25671451 RGD:25671456 RGD:40400711 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G ADAR adenosine deaminase RNA specific treatment
no_association
disease_progression
ISO DNA:snps, haplotype: (rs7515339, rs903323) (human)
DNA:SNP:exon: (rs1127309) (human)
DNA:silent mutation:CDS:p.V849V (rs1127309) (human)
associated with human immunodeficiency virus infectious disease;DNA:missense mutation:exon 2, 3' utr:p.K384R (rs2229857, rs1127326) (human)
RGD PMID:17979507 PMID:19434718 PMID:26911666 PMID:29906476 RGD:11554370 RGD:125097513 RGD:125097514 RGD:38599150 NCBI chr 1:129,937,993...129,983,747 JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:26293833 RGD:14401718 NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
JBrowse link
G AICDA activation induced cytidine deaminase disease_progression ISO mRNA:increased expression:B cell
mRNA, protein:increased expression:B cell, CD19-positive (human)
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD PMID:20189883 PMID:26219420 PMID:26946048 RGD:30296664 RGD:32716369 RGD:32716380 NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
JBrowse link
G ANG angiogenin ISO RGD PMID:21848603 RGD:6892709 NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393
JBrowse link
G APOE apolipoprotein E severity ISO DNA:polymorphism:exon: RGD PMID:12143056 RGD:7495764 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G AURKA aurora kinase A ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO RNA:increased expression:liver: RGD PMID:24429361 RGD:14975280 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL4L2 C-C motif chemokine ligand 4 like 2 treatment ISO RGD PMID:26147061 RGD:41404637 NCBI chr17:20,689,341...20,691,921 JBrowse link
G CCL5 C-C motif chemokine ligand 5 treatment
severity
disease_progression
ISO DNA:SNPs,haplotype: :
DNA:polymorphism:promoter:-403G>A(human)
DNA:SNP: :rs3817656(human)
mRNA:increased expression:liver:
RGD PMID:12557141 PMID:15368437 PMID:15770052 PMID:29703961 RGD:14995332 RGD:14995334 RGD:14995336 RGD:14995340 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CCND1 cyclin D1 ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chr11:64,737,006...64,750,353 JBrowse link
G CCND2 cyclin D2 ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
JBrowse link
G CCR5 C-C motif chemokine receptor 5 treatment
disease_progression
ISO DNA:deletion:cds: RGD PMID:12055576 PMID:12873822 RGD:14401729 RGD:14401737 NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
G CD163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:26554542 RGD:149735574 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
JBrowse link
G CD226 CD226 molecule treatment ISO RGD PMID:21695691 RGD:40818295 NCBI chr18:63,238,477...63,379,346
Ensembl chr18:66,533,949...66,627,580
JBrowse link
G CD274 CD274 molecule ISO protein:increased expression:peripheral blood mononuclear cell RGD PMID:18086898 RGD:41410796 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
JBrowse link
G CLDN1 claudin 1 susceptibility ISO associated with intravenous substance abuse;DNA:SNP:promoter, intron:multiple mutations
mRNA:decreased expression:liver (human)
RGD PMID:19674288 PMID:21412800 RGD:25330352 RGD:26884350 NCBI chr 3:187,328,629...187,345,360
Ensembl chr 3:195,882,239...195,899,248
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO mRNA, protein:decreased expression:liver hepatocytes RGD PMID:15685545 RGD:5683635 NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481
JBrowse link
G CRP C-reactive protein ISO RGD PMID:22333691 RGD:6482311 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment ISO DNA:SNP,haplotype:exon,promoter:49A>G,-318 T>C(human) RGD PMID:12696006 RGD:14398739 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:serum RGD PMID:31127759 RGD:27095949 NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 treatment ISO RGD PMID:21554996 RGD:150521553 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 severity ISO DNA:polymorphism:promoter: 1260C>A (rs10877012) (human) RGD PMID:21145801 RGD:25671413 NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822
JBrowse link
G FOXP3 forkhead box P3 ISO RGD PMID:18673437 RGD:38548921 NCBI chr  X:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029
JBrowse link
G GGT1 gamma-glutamyltransferase 1 severity ISO RGD PMID:10934805 RGD:14747019 NCBI chr22:5,424,334...5,469,705 JBrowse link
G GPT2 glutamic--pyruvic transaminase 2 ISO protein:increased activity:plasma RGD PMID:22922605 RGD:14975251 NCBI chr16:27,150,159...27,197,006
Ensembl chr16:46,040,439...46,086,840
JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO RGD PMID:17397002 RGD:14700966 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO mRNA, protein:increased expression, increased activity:monocytes,myeloid dendritic cells,serum (human) RGD PMID:25605587 RGD:39939081 NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352
JBrowse link
G IGF2 insulin like growth factor 2 severity ISO DNA:SNPs, haplotype:multiple RGD PMID:16750516 RGD:14401723 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890
JBrowse link
G IL10 interleukin 10 susceptibility
treatment
no_association
ISO DNA:polymorphism:promoter:
DNA:SNP:promoter: rs3021094, rs3024498 (human)
DNA:SNP:promoter:-592C>A (rs1800872) (human)
protein:increased expression:serum:
RGD PMID:25708446 PMID:26095186 PMID:29247709 RGD:14700655 RGD:14975141 RGD:38456002 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL12B interleukin 12B severity ISO DNA:SNP:3' utr:+1188A>C (human) RGD PMID:15871664 RGD:14401721 NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381
JBrowse link
G IL17D interleukin 17D severity ISO associated with human immunodeficiency virus infectious disease;mRNA:increased expression:blood plasma (human) RGD PMID:27875997 RGD:40903073 NCBI chr13:2,030,234...2,049,965
Ensembl chr13:20,343,537...20,361,535
JBrowse link
G IL18 interleukin 18 disease_progression
treatment
ISO DNA:SNP:promoter:-607C>A (rs1946518)(human) RGD PMID:19740312 PMID:25198668 RGD:14696651 RGD:14696656 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL2 interleukin 2 treatment ISO RGD PMID:12673448 RGD:14807336 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G IL21 interleukin 21 ameliorates ISO protein:increased expression:liver, blood, CD4-positive, alpha-beta T cell (human) RGD PMID:24170093 RGD:127285373 NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
JBrowse link
G IL27 interleukin 27 ameliorates ISO DNA:SNP:promoter:-964A>G (rs153109) (human) RGD PMID:27221901 RGD:126790538
G IL32 interleukin 32 treatment
disease_progression
ISO mRNA, protein:increased expression:liver (human) RGD PMID:21381070 PMID:25100847 RGD:150340721 RGD:150340741 NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
JBrowse link
G IL4 interleukin 4 treatment ISO DNA:SNPs:promoter:-590C>T,-33T>C (human)
associated with factor VIII deficiency;protein:increased expression:serum:
RGD PMID:22594992 PMID:23591975 PMID:25708446 RGD:14696678 RGD:14696686 RGD:38456002 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G IL6 interleukin 6 treatment ISO DNA:SNPs:promoter:rs1800795 (human) RGD PMID:27812403 RGD:14975294 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G ITGB6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18221819 NCBI chr2B:47,386,913...47,496,491
Ensembl chr2B:164,764,251...164,867,426
JBrowse link
G KLRK1 killer cell lectin like receptor K1 treatment
disease_progression
ISO protein:decreased expression:liver,natural killer cell (human)
protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD PMID:21168454 PMID:25148254 PMID:25965701 RGD:39018562 RGD:40400738 RGD:40813739 NCBI chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078
JBrowse link
G KRT18 keratin 18 disease_progression
severity
ISO protein:increased expression:liver, serum (human)
protein:increased degradation:serum (human)
protein:increased expression:serum (human)
RGD PMID:19333204 PMID:22404726 PMID:23820504 PMID:30839434 RGD:18337481 RGD:18337493 RGD:18337496 RGD:18337500 NCBI chr12:35,807,660...35,811,691
Ensembl chr12:36,587,149...36,591,196
JBrowse link
G KRT8 keratin 8 ISO protein:increased phosphorylation:liver (human) RGD PMID:15368451 RGD:14401583 NCBI chr12:35,855,367...35,863,248
Ensembl chr12:36,634,582...36,642,564
JBrowse link
G LEP leptin ISO protein:altered localization:serum (human) RGD PMID:11336170 RGD:21201249 NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
JBrowse link
G LEPR leptin receptor ISO mRNA:altered expression:liver, peripheral blood mononuclear cell RGD PMID:17060687 RGD:21079470 NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
JBrowse link
G LGALS3 galectin 3 ISO mRNA:increased expression:CD19+Bcell: RGD PMID:20189883 RGD:32716380 NCBI chr14:35,715,850...35,732,263
Ensembl chr14:53,990,023...54,006,412
JBrowse link
G LOC100972354 interferon alpha-2 treatment ISO CTD Direct Evidence: therapeutic
associated with end stage renal disease
CTD
RGD
PMID:7493300 PMID:8868074 PMID:9187562 PMID:9310930 PMID:9563925 More... RGD:40886308 RGD:40886310 RGD:40886311 RGD:40886313 RGD:40886314 RGD:40886316 RGD:40886318 NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain disease_progression ISO DNA:polymorphism:cds:HLA-DQB1*02 (human) RGD PMID:17489060 RGD:36174022 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G LOC100976419 interferon lambda-1 ameliorates ISO protein:altered expression:blood serum (human)
mRNA,protein:increased expression:liver, blood serum (human)
protein:increased expression:blood serum (human)
RGD PMID:21145813 PMID:23071503 PMID:30926417 RGD:126848741 RGD:126848747 RGD:126848749 NCBI chr19:36,394,462...36,397,363
Ensembl chr19:44,942,186...44,944,519
JBrowse link
G LOC100978434 C-type lectin domain family 4 member M disease_progression ISO DNA:polymorphism,repeats:exon4: allele 4 (human) RGD PMID:24283933 RGD:41410818 NCBI chr19:7,062,961...7,069,381 JBrowse link
G LOC100990924 NKG2-A/NKG2-B type II integral membrane protein treatment ISO protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:16322112 PMID:20550548 PMID:31218578 RGD:40400920 RGD:40818079 RGD:40818296 NCBI chr12:10,469,351...10,576,060
Ensembl chr12:10,720,723...10,744,046
JBrowse link
G LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain ameliorates ISO DNA:polymorphism: :HLA-DPB1*04:01 (human)
mRNA:increased expression:peripheral blood mononuclear cell(human)
RGD PMID:27601657 PMID:28332201 RGD:150429796 RGD:150429805 NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387
JBrowse link
G LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain disease_progression ISO DNA:SNP, haplotype: :rs3077, rs9277534(human) RGD PMID:24897020 RGD:14694819 NCBI chr 6:32,637,826...32,646,501
Ensembl chr 6:33,752,638...33,761,417
JBrowse link
G MBL2 mannose binding lectin 2 treatment ISO DNA:SNPs:promoter,exon:
DNA:haplotype:promoter, exon:
RGD PMID:18336595 PMID:25956563 RGD:11076743 RGD:14696820 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G MX1 MX dynamin like GTPase 1 exacerbates
treatment
ISO DNA:SNPs:promoter: (rs2071430, rs17000900) (human)
DNA:SNPs:promoter:g.-123C>A, -88G>T(human)
RGD PMID:25239021 PMID:29271328 RGD:11067846 RGD:126777679 NCBI chr21:27,756,768...27,795,307
Ensembl chr21:41,095,928...41,123,019
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 disease_progression
treatment
ISO protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
protein:decreased expression:liver, natural killer cell (human)
RGD PMID:16322112 PMID:20550548 PMID:21168454 PMID:21695691 PMID:23813131 More... RGD:40400738 RGD:40400920 RGD:40813739 RGD:40818079 RGD:40818295 RGD:40818296 RGD:40818297 NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274
JBrowse link
G NCR3 natural cytotoxicity triggering receptor 3 disease_progression
treatment
ISO protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD PMID:16322112 PMID:20550548 PMID:21168454 PMID:21695691 PMID:23813131 RGD:40400738 RGD:40818079 RGD:40818295 RGD:40818296 RGD:40818297 NCBI chr 6:31,249,947...31,281,613
Ensembl chr 6:32,139,981...32,171,525
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 disease_progression ISO DNA:insertion:promoter: -94insATTG (rs28362491) (human) RGD PMID:26827631 RGD:11572306 NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
JBrowse link
G PLAU plasminogen activator, urokinase ISO RGD PMID:19628656 RGD:6483809 NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO associated with liver cirrhosis;mRNA, protein:decreased expression:liver (human)
mRNA, protein:decreased expression:liver hepatocytes
RGD PMID:15685545 RGD:5683635 Ensembl chr22:45,218,364...45,302,970 JBrowse link
G PRDX5 peroxiredoxin 5 ISO mRNA:decreased expression:liver, blood (human) RGD PMID:32103340 RGD:41404682 NCBI chr11:59,675,138...59,678,804
Ensembl chr11:63,020,097...63,023,624
JBrowse link
G PRF1 perforin 1 disease_progression ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25148254 RGD:40813739 NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070
JBrowse link
G SLC11A1 solute carrier family 11 member 1 disease_progression ISO DNA:polymorphisms, haplotype:promoter (human) RGD PMID:14960532 RGD:5684961 NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941
JBrowse link
G SLC6A4 solute carrier family 6 member 4 susceptibility ISO associated with alexithymia;DNA:haplotypes, multiple: RGD PMID:26609890 RGD:11352995 NCBI chr17:26,546,177...26,572,301
Ensembl chr17:27,050,900...27,092,882
JBrowse link
G SMAD4 SMAD family member 4 ISO protein:increased expression:liver: RGD PMID:29924446 RGD:21066342 NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
JBrowse link
G SPP1 secreted phosphoprotein 1 treatment ISO DNA:SNPs:promoter:-443C>T, -1748G>A (human) RGD PMID:15868370 RGD:1581374 NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
JBrowse link
G STAT3 signal transducer and activator of transcription 3 severity ISO RGD PMID:17318196 RGD:8694293 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
JBrowse link
G TLR3 toll like receptor 3 disease_progression
treatment
susceptibility
severity
ISO DNA:SNP: :rs3775290(human)
DNA:SNP: :rs13126816 (human)
treatment:peginterferon plus ribavirin.
DNA:SNP:cds:p.Leu412Phe(human)
RGD PMID:19674283 PMID:23220997 PMID:23240626 PMID:28480979 PMID:29860675 More... RGD:21079422 RGD:21079423 RGD:21079427 RGD:21079428 RGD:21079430 RGD:21079435 NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:SNP: :rs2148356(human)
protein:increased expression:serum:
RGD PMID:26095186 RGD:14700655 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TNF tumor necrosis factor severity
treatment
ISO protein:increased expression:plasma (human)
protein:increased expression:serum (human)
RGD PMID:9047083 PMID:9440625 PMID:25708446 RGD:14995307 RGD:14995439 RGD:38456002 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A treatment ISO RGD PMID:21152182 RGD:8661764 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
JBrowse link
G VDR vitamin D receptor treatment
no_association
ISO DNA:polymorphism: : RGD PMID:26725771 PMID:27263300 RGD:14401746 RGD:14401749 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:missense mutation:cds:p.R194W, p.R280H, p.R399Q (human) RGD PMID:29935355 RGD:15036797 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A severity ISO protein:increased expression:liver (human) RGD PMID:21739451 PMID:25225661 RGD:39938960 RGD:39938976 NCBI chr 1:36,743,341...36,753,261
Ensembl chr 1:38,093,917...38,103,556
JBrowse link
hepatitis A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO DNA:insertion/deletion:intron 16: RGD PMID:12458570 RGD:39939119 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 disease_progression ISO RGD PMID:26347518 RGD:40818419 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G PDCD1 programmed cell death 1 disease_progression ISO RGD PMID:26347518 RGD:40818419 NCBI chr2B:129,111,509...129,121,127 JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum (human) RGD PMID:9047083 RGD:14995307 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:SNP:intron: (rs1001581) (human)
DNA:missense mutation:cds:p.R194W (rs1799782) (human)
RGD PMID:22135187 PMID:29558945 RGD:15014793 RGD:15036793 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
JBrowse link
hepatitis B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AICDA activation induced cytidine deaminase treatment ISO RGD PMID:28063995 RGD:30310232 NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
JBrowse link
G CA9 carbonic anhydrase 9 disease_progression ISO DNA:SNP::rs2071676(human) RGD PMID:32297155 RGD:40903057 NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340
JBrowse link
G CCL5 C-C motif chemokine ligand 5 disease_progression
susceptibility
ISO DNA:polymorphisms: :
DNA:polymorphisms:promoter:-403G>A,-28C>G (human)
RGD PMID:19017985 PMID:22576913 PMID:23336202 PMID:30536991 RGD:14401739 RGD:14995327 RGD:14995330 RGD:14995331 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO RGD PMID:19185001 RGD:6893388 NCBI chr 3:46,147,928...46,172,947
Ensembl chr 3:47,253,878...47,278,630
JBrowse link
G CCR5 C-C motif chemokine receptor 5 susceptibility
disease_progression
ISO DNA:SNP: : rs1799987(human)
DNA:polymorphism:promoter:59029A>G,59353C>T
DNA:polymorphism: :DNA:deletion:Cds:
RGD PMID:17063508 PMID:27892677 PMID:29239247 RGD:14401574 RGD:14401575 RGD:14401727 NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
G CD68 CD68 molecule ISO associated with inflammation;protein:increased expression:liver (human) RGD PMID:9699943 RGD:40925917 NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 disease_progression ISO DNA:SNPs: :-1722T>C(rs733618), 49A>G(rs231775)6230G>A(rs3087243)(human) RGD PMID:15452244 RGD:14398731 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G CTNNB1 catenin beta 1 ISO associated with hepatocellular carcinoma;protein:increased expression:liver (human) RGD PMID:25536643 RGD:150429591 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 disease_progression ISO DNA:SNP:promoter:-201G>A(human) RGD PMID:18325387 RGD:27095959 NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 severity ISO DNA:SNP:promoter: -1260C>A (rs10877012) (human) RGD PMID:22963605 RGD:25671410 NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822
JBrowse link
G DOCK8 dedicator of cytokinesis 8 disease_progression ISO DNA:SNP::rs506121(human) RGD PMID:32297155 RGD:40903057 NCBI chr 9:6,791...256,837
Ensembl chr 9:201,156...446,910
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 disease_progression ISO RGD PMID:11861827 RGD:40902828 NCBI chr2A:37,130,386...37,184,587
Ensembl chr2A:37,895,814...37,941,686
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:liver: RGD PMID:12526294 RGD:14700675 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FASLG Fas ligand ISO protein:increased expression:liver: RGD PMID:12526294 RGD:14700675 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
JBrowse link
G FOXP3 forkhead box P3 ISO associated with hepatocellular carcinoma; protein:increased expression:liver RGD PMID:21086571 RGD:38548919 NCBI chr  X:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029
JBrowse link
G IFNAR2 interferon alpha and beta receptor subunit 2 susceptibility ISO ClinVar Annotator: match by term: Hepatitis b virus, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16757563 PMID:25741868 PMID:28492532 NCBI chr21:19,593,032...19,628,651
Ensembl chr21:32,981,428...33,004,062
JBrowse link
G IFNB1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15994231 NCBI chr 9:20,884,742...20,886,317 JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:15994231 PMID:20610715 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IFNGR1 interferon gamma receptor 1 susceptibility ISO ClinVar Annotator: match by term: Hepatitis b virus, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12516030 PMID:16690980 PMID:19488747 PMID:28492532 NCBI chr 6:134,958,270...134,980,560
Ensembl chr 6:139,045,821...139,068,053
JBrowse link
G IL10 interleukin 10 no_association
treatment
ISO DNA:SNPs:promoter:-592C>A (rs1800872), -819C>A (rs1800871) (human)
DNA:SNP, haplotypes:promoter:-1082G>A (rs1800896) (human)
RGD PMID:27644568 RGD:14975150 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL10RB interleukin 10 receptor subunit beta susceptibility ISO ClinVar Annotator: match by term: Hepatitis b virus, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16757563 PMID:24033266 PMID:28492532 NCBI chr21:19,628,808...19,668,268
Ensembl chr21:33,005,505...33,032,738
JBrowse link
G IL18 interleukin 18 susceptibility
disease_progression
ISO associated with hepatocellular carcinoma; DNA:SNP:promoter:-137G>C(rs187238)(human)
DNA:SNPs:promoter,intron,exon:���148G>C, +8925C>G,+13925A>C(human)
RGD PMID:19466545 PMID:27429592 RGD:14695540 RGD:14696658 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:25968473 RGD:14747044 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G IL21 interleukin 21 ISO mRNA:increased expression:spleen (C57BL/6N mouse) RGD PMID:29544722 RGD:127285375 NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
JBrowse link
G IL27 interleukin 27 exacerbates ISO mRNA:increased expression:blood plasma (human)
protein:increased expression:blood serum (human)
RGD PMID:19081304 PMID:22766719 PMID:26925776 RGD:126790497 RGD:126790543 RGD:39128258
G IL2RB interleukin 2 receptor subunit beta disease_progression ISO RGD PMID:29307521 RGD:42724467 NCBI chr22:18,039,469...18,069,952
Ensembl chr22:35,874,898...35,899,038
JBrowse link
G IL32 interleukin 32 treatment ISO human gene variant in a mouse model RGD PMID:30115930 RGD:150340732 NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
JBrowse link
G IL4 interleukin 4 treatment ISO DNA:SNPs: :rs2243250,rs2227284(human) RGD PMID:28051794 RGD:14696676 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G IL6 interleukin 6 ISO DNA:SNP:promoter:-174C>G (human) RGD PMID:27268603 RGD:14975295 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IRF1 interferon regulatory factor 1 disease_progression ISO RGD PMID:11861827 RGD:40902828 NCBI chr 5:127,903,887...127,913,843
Ensembl chr 5:134,067,441...134,075,035
JBrowse link
G KAT2A lysine acetyltransferase 2A treatment ISO RGD PMID:23913178 RGD:9590262 NCBI chr17:15,194,414...15,202,818
Ensembl chr17:15,416,075...15,424,197
JBrowse link
G LOC100972354 interferon alpha-2 treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:8509638 PMID:9339942 PMID:10836394 PMID:11112032 RGD:21406432 NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain treatment ISO RGD PMID:29042702 PMID:29979894 RGD:14865006 RGD:14865007 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility
severity
treatment
disease_progression
ISO DNA:SNP: :rs9277535(human)
DNA:SNPs, haplotype:3' utr:multiple (human)
DNA:SNP: :rs7770370(human)
DNA:polymorphisms:3-UTR:rs9277534(human)
RGD PMID:22496224 PMID:26197724 PMID:27051043 PMID:27083422 RGD:11553629 RGD:14694816 RGD:14694820 RGD:14694821 NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387
JBrowse link
G LOC100995577 HLA class II histocompatibility antigen, DP alpha 1 chain disease_progression ISO DNA:SNP: :rs3077(human) RGD PMID:27051043 RGD:14694816 NCBI chr 6:32,637,826...32,646,501
Ensembl chr 6:33,752,638...33,761,417
JBrowse link
G LOX lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr 5:117,450,833...117,464,957
Ensembl chr 5:123,234,662...123,248,717
JBrowse link
G LOXL2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr 8:22,547,303...22,653,676
Ensembl chr 8:19,483,335...19,589,522
JBrowse link
G MBL2 mannose binding lectin 2 disease_progression ISO DNA:haplotype:promoter,exon: RGD PMID:16231358 RGD:14696834 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ISO mRNA:decreased expression:liver (human) RGD PMID:23157389 RGD:126925755 NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492
JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association
susceptibility
ISO DNA:missense mutations:cds:g.1298A>C, g.2756A>G
DNA:transition:cds:g.677C>T (human)
RGD PMID:18222012 RGD:38508898 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO associated with hepatocellular carcinoma;protein:decreased expression:liver (human) RGD PMID:28370778 RGD:150520169 NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
JBrowse link
G NFKBIA NFKB inhibitor alpha susceptibility ISO DNA:SNPs:promoter:-826C>T, -881A>G (rs2233406, rs3138053) (human) RGD PMID:25223483 RGD:40902986 NCBI chr14:16,155,331...16,158,588 JBrowse link
G PDCD1 programmed cell death 1 disease_progression
susceptibility
ISO DNA:SNPs,halptype: :rs36084323, rs2227981,rs2227982(human)
DNA:SNP: :rs2227981(human)
RGD PMID:28667037 PMID:29786123 PMID:31770816 RGD:40818272 RGD:40818414 RGD:40818423 NCBI chr2B:129,111,509...129,121,127 JBrowse link
G PLAU plasminogen activator, urokinase severity ISO protein:increased expression:plasma RGD PMID:18691743 RGD:6483828 NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
JBrowse link
G PLAUR plasminogen activator, urokinase receptor severity ISO protein:increased expression:plasma RGD PMID:18691743 RGD:6483828 NCBI chr19:40,588,100...40,616,479
Ensembl chr19:49,197,341...49,222,561
Ensembl chr19:49,197,341...49,222,561
JBrowse link
G PRKCSH protein kinase C substrate 80K-H treatment ISO RGD PMID:24769044 RGD:14402034 NCBI chr19:10,981,398...10,997,062
Ensembl chr19:11,693,620...11,707,728
JBrowse link
G PTEN phosphatase and tensin homolog exacerbates ISO mRNA:decreased expression:liver (mouse) RGD PMID:31604033 RGD:127285593 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G RNASEL ribonuclease L ISO RGD PMID:11861827 RGD:40902828 NCBI chr 1:158,092,346...158,108,026
Ensembl chr 1:161,741,645...161,760,045
JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human) RGD PMID:24317272 RGD:149735572 NCBI chr20:33,224,200...33,282,018
Ensembl chr20:34,341,367...34,398,314
JBrowse link
G SLC10A1 solute carrier family 10 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hepatitis B virus, resistance to
CTD
ClinVar
PMID:14660639 PMID:25418280 PMID:25550158 PMID:27882152 PMID:28835676 More... NCBI chr14:50,369,663...50,390,984
Ensembl chr14:69,240,602...69,261,904
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27444301 NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:27312012 RGD:39128205 NCBI chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846
JBrowse link
G TLR2 toll like receptor 2 treatment ISO RGD PMID:30008718 RGD:15090859 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TLR3 toll like receptor 3 susceptibility
disease_progression
ISO DNA:SNP, haplotype: rs1879026(human)
DNA:SNPs, haplotype: rs3775291,rs5743305 (human)
RGD PMID:22825813 PMID:30143709 RGD:21079424 RGD:21079431 NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
JBrowse link
G TNF tumor necrosis factor treatment
no_association
severity
ISO DNA:SNP:promoter:-857C>T (rs1799724) (human)
DNA:SNP:promoter:-308G>A (rs1800629) (human)
DNA:SNPs:promoter:-863C>A, -308A>G (human)
RGD PMID:12915457 PMID:27644568 RGD:14975150 RGD:14995438 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ISO protein:increased expression:plasma RGD PMID:27328755 RGD:126925974 NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091
JBrowse link
G VDR vitamin D receptor disease_progression
susceptibility
ISO DNA:polymorphisms: :
DNA:polymorphisms, hapoltype: :
RGD PMID:16733893 PMID:19693091 RGD:14401748 RGD:14402030 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:missense mutation, haplotype:cds:p.R399Q (human) RGD PMID:23454624 RGD:15036794 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A treatment ISO human gene in a mouse model RGD PMID:31926181 RGD:39938973 NCBI chr 1:36,743,341...36,753,261
Ensembl chr 1:38,093,917...38,103,556
JBrowse link
hepatitis C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFP alpha fetoprotein treatment ISO RGD PMID:25914481 RGD:126790581 NCBI chr 4:50,739,197...50,758,459
Ensembl chr 4:56,571,519...56,590,391
JBrowse link
G APOA1 apolipoprotein A1 severity ISO associated with liver cirrhosis; protein:decreased expression:serum (human) RGD PMID:19818291 RGD:25671441 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
JBrowse link
G CCL5 C-C motif chemokine ligand 5 susceptibility ISO associated with Intravenous Substance Abuse;DNA:haplotype: :rs2107538A,rs2280788G,rs2280789C (human) RGD PMID:27304910 RGD:14401735 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CCR5 C-C motif chemokine receptor 5 susceptibility
no_association
ISO ClinVar Annotator: match by term: HCV, RESISTANCE TO
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds:
OMIM
ClinVar
CTD
RGD
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 More... RGD:14401731 NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
G CD274 CD274 molecule ISO protein:increased expression:dendritic cell RGD PMID:20513078 RGD:41410799 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
JBrowse link
G CD81 CD81 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517063 NCBI chr11:2,400,503...2,421,132
Ensembl chr11:2,437,991...2,449,308
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 disease_progression
treatment
ISO protein:increased expression:serum RGD PMID:18775023 PMID:24668726 PMID:25512630 RGD:27095893 RGD:27095943 RGD:27095945 NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:blood serum (human) RGD PMID:28163109 RGD:150521548 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
JBrowse link
G CYP3A4 cytochrome P450 family 3 subfamily A member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8864187 NCBI chr 7:91,797,037...91,824,696
Ensembl chr 7:105,230,666...105,258,401
JBrowse link
G DDX58 DExD/H-box helicase 58 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170495 NCBI chr 9:32,230,012...32,302,159
Ensembl chr 9:33,040,000...33,110,557
JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:28129465 RGD:40818432 NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
JBrowse link
G FOXP3 forkhead box P3 ISO mRNA:increased expression:liver RGD PMID:17414718 RGD:38456005 NCBI chr  X:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029
JBrowse link
G GRAP2 GRB2 related adaptor protein 2 severity ISO DNA:SNP:intron: (human) RGD PMID:15063762 RGD:126790487 NCBI chr22:20,831,191...20,878,867
Ensembl chr22:38,651,719...38,696,566
JBrowse link
G HFE homeostatic iron regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15865084 NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591
JBrowse link
G IFNAR1 interferon alpha and beta receptor subunit 1 resistance ISO RGD PMID:21756311 RGD:5147491 NCBI chr21:19,683,496...19,719,034
Ensembl chr21:33,058,396...33,093,824
JBrowse link
G IFNG interferon gamma susceptibility ISO protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
ClinVar Annotator: match by term: Hepatitis C virus infection, response to therapy of
CTD Direct Evidence: marker/mechanism
OMIM
RGD
ClinVar
CTD
PMID:17215375 PMID:17553896 RGD:40400745 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IL10 interleukin 10 no_association ISO DNA:SNPs: :multiple
protein:increased expression:serum
DNA:SNPs: :rs1800896 (human)
RGD PMID:19302182 PMID:28340949 RGD:14975144 RGD:2308942 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL12A interleukin 12A susceptibility
disease_progression
ISO DNA:SNP:3'UTR: rs568408( G>A)(human)
associated with diabetes mellitus;
RGD PMID:27819525 PMID:30243010 RGD:25440490 RGD:25440502 NCBI chr 3:157,011,675...157,019,897
Ensembl chr 3:165,061,505...165,068,666
JBrowse link
G IL13 interleukin 13 disease_progression ISO protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD PMID:17553896 RGD:40400745 NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
JBrowse link
G IL18 interleukin 18 susceptibility
disease_progression
treatment
ISO protein:increased expression:serum:
DNA:SNP:promoter:-607C>A (rs1946518)(human)
DNA:SNPs:promoter:-607C>A, -137G>C(human)
DNA:SNPs:promoter:-137G>C,-607C>A(human)
RGD PMID:18781864 PMID:19455410 PMID:21984735 PMID:26486291 PMID:27927859 RGD:14695527 RGD:14695530 RGD:14696653 RGD:14696654 RGD:14696657 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL1B interleukin 1 beta ISO associated with Glomerulonephritis; protein:increased expression:serum (human) RGD PMID:21623661 RGD:7175316 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:17553896 RGD:40400745 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G IL4 interleukin 4 susceptibility ISO protein:decreased expression:serum
DNA:SNP:promoter:-589C>T (human)
RGD PMID:28368861 RGD:14696680 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G IL6 interleukin 6 no_association ISO DNA:SNPs: :rs1474348, rs1800796, rs1800797 (human)
DNA:SNPs: :multiple
RGD PMID:28340949 RGD:14975144 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IRF5 interferon regulatory factor 5 treatment ISO mRNA:increased expression:liver RGD PMID:27942586 PMID:28259968 RGD:40924562 RGD:40924642 NCBI chr 7:120,889,752...120,902,096
Ensembl chr 7:133,415,170...133,426,356
JBrowse link
G IRF9 interferon regulatory factor 9 ISO protein:increased expression:liver RGD PMID:26216956 RGD:11074283 NCBI chr14:4,937,068...4,942,870
Ensembl chr14:23,061,990...23,067,824
JBrowse link
G ITPA inosine triphosphatase disease_progression ISO DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human) RGD PMID:24519039 RGD:10766473 NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924
JBrowse link
G KLRK1 killer cell lectin like receptor K1 disease_progression ISO mRNA:decreased expression:peripheral blood mono-nuclear cell, natural killer cell (human)
protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
associated with HIV Seropositivity;protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD PMID:26518141 PMID:27091211 RGD:11553576 RGD:40818300 NCBI chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078
JBrowse link
G KRT8 keratin 8 ISO ClinVar Annotator: match by term: Hepatitis c virus, susceptibility to
ClinVar Annotator: match by term: Susceptibility to hepatitis C virus
ClinVar PMID:11372009 PMID:15090596 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr12:35,855,367...35,863,248
Ensembl chr12:36,634,582...36,642,564
JBrowse link
G LDLR low density lipoprotein receptor disease_progression ISO DNA:polymorphisms:exon, 3' utr (human) RGD PMID:12209363 RGD:5490246 NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
JBrowse link
G LOC100972354 interferon alpha-2 treatment ISO mRNA:decreased expression:peripheral blood mononuclear cell (human)
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:9722937 PMID:11010742 PMID:11132533 PMID:11981781 PMID:15980766 More... RGD:21406430 NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility
disease_progression
ISO associated with Beta-Thalassemia
DNA:polymorphism:cds:HLA-DQB1*03, *0501 (human)
RGD PMID:21535077 PMID:22155912 PMID:27340680 PMID:27599887 RGD:11041750 RGD:14928326 RGD:14928327 RGD:40902997 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G LOC100976419 interferon lambda-1 ISO DNA:missense mutation, haplotype:exon (rs30461) (human) RGD PMID:24269996 RGD:126848746 NCBI chr19:36,394,462...36,397,363
Ensembl chr19:44,942,186...44,944,519
JBrowse link
G LOC100990924 NKG2-A/NKG2-B type II integral membrane protein disease_progression ISO protein:increased expression:peripheral blood mononuclear cell, natural killer c RGD PMID:17553896 RGD:40400745 NCBI chr12:10,469,351...10,576,060
Ensembl chr12:10,720,723...10,744,046
JBrowse link
G LOX lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr 5:117,450,833...117,464,957
Ensembl chr 5:123,234,662...123,248,717
JBrowse link
G LOXL2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr 8:22,547,303...22,653,676
Ensembl chr 8:19,483,335...19,589,522
JBrowse link
G LPL lipoprotein lipase ISO CTD Direct Evidence: therapeutic CTD PMID:17517063 NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:SNP:exon:
DNA:SNPs, haplotype:promoter, exon:
RGD PMID:19703233 PMID:20570631 RGD:14696815 RGD:14696832 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ISO mRNA:decreased expression:liver (human) RGD PMID:23157389 RGD:126925755 NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO mRNA,protein:increased expression:liver RGD PMID:23108410 RGD:14695017 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 disease_progression ISO protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:17553896 RGD:40400745 NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274
JBrowse link
G NCR3 natural cytotoxicity triggering receptor 3 disease_progression ISO protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:17553896 RGD:40400745 NCBI chr 6:31,249,947...31,281,613
Ensembl chr 6:32,139,981...32,171,525
JBrowse link
G NFKBIA NFKB inhibitor alpha susceptibility ISO DNA:deletion:promoter: (rs28362491) (human) RGD PMID:30056167 RGD:40902826 NCBI chr14:16,155,331...16,158,588 JBrowse link
G OPRM1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12937158 PMID:17299060 NCBI chr 6:151,827,323...151,937,658
Ensembl chr 6:156,517,661...157,088,251
JBrowse link
G PDCD1 programmed cell death 1 disease_progression ISO DNA:SNP:3' UTR:rs10204525(human) RGD PMID:25747035 RGD:11052797 NCBI chr2B:129,111,509...129,121,127 JBrowse link
G PPIA peptidylprolyl isomerase A ameliorates ISO RGD PMID:23903655 RGD:150429630 NCBI chr 7:45,510,450...45,515,448
Ensembl chr 7:45,578,765...45,605,545
JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C susceptibility ISO ClinVar Annotator: match by term: Hepatitis c virus, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7621884 PMID:11101853 PMID:11528386 PMID:11548742 PMID:11841494 More... NCBI chr 1:174,246,389...174,364,893
Ensembl chr 1:178,556,104...178,672,994
JBrowse link
G PTX3 pentraxin 3 severity ISO protein:increased expression:plasma (human) RGD PMID:26400151 RGD:11554449 NCBI chr 3:154,485,470...154,492,293
Ensembl chr 3:162,537,577...162,543,652
JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human) RGD PMID:24317272 RGD:149735572 NCBI chr20:33,224,200...33,282,018
Ensembl chr20:34,341,367...34,398,314
JBrowse link
G SCARB1 scavenger receptor class B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517063 NCBI chr12:122,293,803...122,455,314
Ensembl chr12:126,659,532...126,694,767
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO protein:increased expression:liver RGD PMID:26216956 RGD:11074283 NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280
JBrowse link
G STAT2 signal transducer and activator of transcription 2 ISO protein:increased expression:liver RGD PMID:26216956 RGD:11074283 NCBI chr12:32,555,523...32,574,137
Ensembl chr12:32,808,586...32,827,732
JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO RGD PMID:24634940 RGD:14696782 NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
JBrowse link
G TLR3 toll like receptor 3 susceptibility
disease_progression
severity
ISO associated with glomerulonephritis;mRNA:increased expression:liver:
DNA:SNP:cds:p.Leu412Phe(human)
DNA:SNPs: :rs3775290,rs3775291,rs5743312 (human)
associated with liver transplant;DNP:SNP:cds:p.Leu412Phe(human)
RGD PMID:21623661 PMID:23240626 PMID:27101936 PMID:29947302 RGD:21079422 RGD:21079429 RGD:21079437 RGD:7175316 NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
JBrowse link
G TLR7 toll like receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27385120 NCBI chr  X:5,479,247...5,504,810
Ensembl chr  X:12,767,981...12,790,517
JBrowse link
G TLR8 toll like receptor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27385120 NCBI chr  X:5,518,742...5,535,304 JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ISO protein:increased expression:plasma RGD PMID:27328755 RGD:126925974 NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13941
    disease by infectious agent 1797
      viral infectious disease 1503
        viral hepatitis 157
          Human Viral Hepatitis 155
            Epstein-Barr virus hepatitis 0
            hepatitis A 5
            hepatitis B + 94
            hepatitis C + 113
            hepatitis D + 0
            hepatitis E 0
Path 2
Term Annotations click to browse term
  disease 13941
    disease of anatomical entity 13608
      gastrointestinal system disease 5571
        hepatobiliary disease 2297
          liver disease 2209
            hepatitis 230
              viral hepatitis 157
                Human Viral Hepatitis 155
                  Epstein-Barr virus hepatitis 0
                  hepatitis A 5
                  hepatitis B + 94
                  hepatitis C + 113
                  hepatitis D + 0
                  hepatitis E 0
paths to the root